{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/10130"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/10130","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa","abstract":"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family.","abstract_html":"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family.","abstract_has_math":false,"creators":["Blanckenberg, Janine"],"institution":"Department of Medicine","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Mayosi, Bongani"],"committee_chairs":[],"committee_members":[],"year":2011,"date_issued":"2011","date_published":"2011","updated_at":"2026-07-22T22:23:18Z","subjects":[],"languages":["eng"],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/10130","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Mayosi, Bongani"]},{"key":"dc:creator","label":"Author","values":["Blanckenberg, Janine"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2014-12-26T14:17:52Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2014-12-26T14:17:52Z"]},{"key":"dc:date.issued","label":"Date","values":["2011"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Medicine"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Cape Town"]},{"key":"dc:type","label":"Dc Type","values":["Doctoral Thesis"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Doctoral"]},{"key":"dc:type.qualificationname","label":"Dc Type Qualificationname","values":["PhD"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language.iso","label":"Language (ISO)","values":["eng"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/10130"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family."]},{"key":"dc:title","label":"Title","values":["Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa"]}]}],"canonical_facts":{"dc:contributor.advisor":["Mayosi, Bongani"],"dc:creator":["Blanckenberg, Janine"],"dc:date.accessioned":["2014-12-26T14:17:52Z"],"dc:date.available":["2014-12-26T14:17:52Z"],"dc:date.issued":["2011"],"dc:description.abstract":["Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family."],"dc:identifier.uri":["http://hdl.handle.net/11427/10130"],"dc:language.iso":["eng"],"dc:publisher.department":["Department of Medicine"],"dc:publisher.institution":["University of Cape Town"],"dc:title":["Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa"],"dc:type":["Doctoral Thesis"],"dc:type.qualificationlevel":["Doctoral"],"dc:type.qualificationname":["PhD"]},"updated_at":"2026-07-22T22:23:18Z"}